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Traits
Traits linked to TP53
tumor protein p53
The Human Phenotype Ontology links 214 traits to TP53, by body system: features seen in people with one of the gene's rare conditions.
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ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the nervous system
| Trait | Cât de frecvent apare |
|---|---|
| Choroid plexus carcinoma | Întotdeauna |
| Global developmental delay | Întotdeauna |
| Intellectual disability | Întotdeauna |
| Abnormal shape of nervous system | Foarte des (80–99%) |
| Pins and needles feeling | Foarte des (80–99%) |
| Too much cerebrospinal fluid in the brain | Foarte des (80–99%) |
| Anxiety | Des (30–79%) |
| Behavioral abnormality | Des (30–79%) |
| Can't control feelings | Des (30–79%) |
| Difficulty staying or falling asleep | Des (30–79%) |
| Grand mal seizures | Des (30–79%) |
| Headache | Des (30–79%) |
| Irritability | Des (30–79%) |
| Migraine | Des (30–79%) |
| Panic attack | Des (30–79%) |
| Astrocytoma | Uneori (5–29%) |
| Cognitive impairment | Uneori (5–29%) |
| Depression | Uneori (5–29%) |
| Ependymoma | Uneori (5–29%) |
| Epilepsy | Uneori (5–29%) |
| Glioblastoma multiforme | Uneori (5–29%) |
| Memory impairment | Uneori (5–29%) |
| Paralysis or weakness of one side of body | Uneori (5–29%) |
| Psychotic episodes | Uneori (5–29%) |
| Suicidal ideation | Uneori (5–29%) |
| Tumors of the central nervous system | Uneori (5–29%) |
| Dementia | Rar (1–4%) |
| Medulloblastoma | Rar (1–4%) |
| Paranoia | Rar (1–4%) |
| Psychosis | Rar (1–4%) |
Abnormality of blood and blood-forming tissues
Abnormality of the digestive system
| Trait | Cât de frecvent apare |
|---|---|
| Pancreatic adenocarcinoma | Întotdeauna |
| Abdominal pain | Foarte des (80–99%) |
| Anorexia | Foarte des (80–99%) |
| Inability to properly digest food due to lack of pancreatic digestive enzymes | Foarte des (80–99%) |
| Poor appetite | Foarte des (80–99%) |
| Primary peritoneal carcinoma | Foarte des (80–99%) |
| Extrahepatic cholestasis | Des (30–79%) |
| Functional intestinal obstruction | Des (30–79%) |
| Intestinal pseudo-obstruction | Des (30–79%) |
| Jaundice | Des (30–79%) |
| Cancer of the pancreas | Uneori (5–29%) |
| Colon cancer | Uneori (5–29%) |
| Colorectal polyposis | Uneori (5–29%) |
| Gastrointestinal tract tumor | Uneori (5–29%) |
| Intermittent diarrhea | Uneori (5–29%) |
| Liver cancer | Uneori (5–29%) |
| Nausea and vomiting | Uneori (5–29%) |
| Peritoneal abscess | Uneori (5–29%) |
| Stomach cancer | Uneori (5–29%) |
| Rectal tumor | Rar (1–4%) |
| Hepatocellular carcinoma | Neînregistrat |
| Hereditary nonpolyposis colorectal carcinoma | Neînregistrat |
| Micronodular cirrhosis | Neînregistrat |
| Nausea | Neînregistrat |
| Stomach tumor | Neînregistrat |
| Subacute progressive viral hepatitis | Neînregistrat |
| Vomiting | Neînregistrat |
Abnormality of the genitourinary system
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal fallopian tube morphology | Foarte des (80–99%) |
| Ovarian cancer | Foarte des (80–99%) |
| Abnormal absence of menstruation | Des (30–79%) |
| Abnormality of reproductive system physiology | Des (30–79%) |
| Testicular degeneration | Des (30–79%) |
| Abnormal libido | Uneori (5–29%) |
| Light or infrequent menstrual periods | Uneori (5–29%) |
| Ovarian carcinoma | Uneori (5–29%) |
| Previous menstrual periods stop | Uneori (5–29%) |
| Prostate cancer | Uneori (5–29%) |
| Kidney cancer | Rar (1–4%) |
| Testicular cancer | Rar (1–4%) |
| Cancer starting in small tubes in kidneys | Neînregistrat |
| Nephroblastoma | Neînregistrat |
| Prostate neoplasm | Neînregistrat |
| Transitional cell carcinoma of the bladder | Neînregistrat |
| Uterine leiomyosarcoma | Neînregistrat |
Abnormality of the endocrine system
| Trait | Cât de frecvent apare |
|---|---|
| Adrenocortical carcinoma | Întotdeauna |
| Decreased activity of gonads | Întotdeauna |
| Increased circulating cortisol level | Foarte des (80–99%) |
| Paradoxical increased cortisol secretion on dexamethasone suppression test | Foarte des (80–99%) |
| Pituitary corticotropic cell adenoma | Foarte des (80–99%) |
| Abnormal circulating dehydroepiandrosterone concentration | Des (30–79%) |
| Adrenocorticotropic hormone deficiency | Des (30–79%) |
| Elevated plasma aldosterone | Des (30–79%) |
| Elevated serum 11-deoxycortisol | Des (30–79%) |
| Enlarged adrenal glands | Des (30–79%) |
| Increased circulating ACTH level | Des (30–79%) |
| Increased circulating androgen concentration | Des (30–79%) |
| Increased circulating androstenedione concentration | Des (30–79%) |
| Increased serum estradiol | Des (30–79%) |
| Thyroid carcinoma | Rar (1–4%) |
Abnormality of the integument
| Trait | Cât de frecvent apare |
|---|---|
| Choroid plexus papilloma | Întotdeauna |
| Reticular hyperpigmentation | Întotdeauna |
| Buffalo hump | Des (30–79%) |
| Excessive hair growth | Des (30–79%) |
| Excessive hairiness | Des (30–79%) |
| Excessive sweating | Des (30–79%) |
| Patchy darkened skin | Des (30–79%) |
| Plethora | Des (30–79%) |
| Poor wound healing | Des (30–79%) |
| Stretch marks | Des (30–79%) |
| Thin skin | Des (30–79%) |
| Flushing | Uneori (5–29%) |
| Open skin sore | Uneori (5–29%) |
| Basal cell carcinoma | Neînregistrat |
Abnormality of the musculoskeletal system
| Trait | Cât de frecvent apare |
|---|---|
| Bone cell cancer | Întotdeauna |
| Back pain | Foarte des (80–99%) |
| Breakdown of bone | Foarte des (80–99%) |
| Delayed bone maturation | Des (30–79%) |
| Fatiguable weakness of proximal limb muscles | Des (30–79%) |
| Muscle weakness | Des (30–79%) |
| Osteoporosis | Des (30–79%) |
| Wasting of muscles near the body | Des (30–79%) |
| Compression fracture of a vertebral body | Uneori (5–29%) |
| Rhabdomyosarcoma | Uneori (5–29%) |
| Spasticity and rigidity of muscles | Uneori (5–29%) |
| Death of bone due to decreased blood supply | Rar (1–4%) |
| Spontaneous fracture | Rar (1–4%) |
Laboratory abnormality
| Trait | Cât de frecvent apare |
|---|---|
| High urine cortisol level | Foarte des (80–99%) |
| Abnormal circulating lactate dehydrogenase concentration | Des (30–79%) |
| Diabetes mellitus | Des (30–79%) |
| Elevated alkaline phosphatase | Des (30–79%) |
| Impaired glucose tolerance | Des (30–79%) |
| Increased circulating lactate dehydrogenase concentration | Des (30–79%) |
| Joint swelling | Des (30–79%) |
| Laboratory abnormality | Des (30–79%) |
| Low blood potassium levels | Des (30–79%) |
| High liver enzymes | Uneori (5–29%) |
| Pee issues | Uneori (5–29%) |
| Fever | Rar (1–4%) |
| Increased level of L-fucose in urine | Neînregistrat |
Abnormality of the cardiovascular system
| Trait | Cât de frecvent apare |
|---|---|
| Abnormality of the cerebral blood vessels | Foarte des (80–99%) |
| Heart attack | Foarte des (80–99%) |
| Abnormality of the cardiovascular system | Des (30–79%) |
| Capillary fragility | Des (30–79%) |
| High blood pressure | Des (30–79%) |
| Increased spleen size | Des (30–79%) |
| Palpitations | Des (30–79%) |
| Swollen lymph nodes | Des (30–79%) |
| Enlarged liver and spleen | Uneori (5–29%) |
| Livedo reticularis | Uneori (5–29%) |
| Mini stroke | Uneori (5–29%) |
| Stroke | Uneori (5–29%) |
Abnormality of head or neck
| Trait | Cât de frecvent apare |
|---|---|
| Abnormally small head | Întotdeauna |
| Dark color of gums | Des (30–79%) |
| Moon face | Des (30–79%) |
| Big sella turcica | Uneori (5–29%) |
| Sparse scalp hair | Uneori (5–29%) |
| Neoplasia of the nasopharynx | Neînregistrat |
Abnormality of the eye
| Trait | Cât de frecvent apare |
|---|---|
| Amaurosis fugax | Foarte des (80–99%) |
| Visual impairment | Uneori (5–29%) |
| Optic nerve compression | Rar (1–4%) |
| Partial loss of field of vision | Rar (1–4%) |
| Papilledema | Neînregistrat |
| Retina tumor | Neînregistrat |
Growth abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Growth delay | Întotdeauna |
| Short stature | Întotdeauna |
| Weight loss | Foarte des (80–99%) |
| Abdominal obesity | Des (30–79%) |
| Increased body weight | Des (30–79%) |
| Truncal obesity | Des (30–79%) |
Abnormal tissue mass
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal tissue mass | Foarte des (80–99%) |
| Cancer of skin pigment cells | Uneori (5–29%) |
| Central primitive neuroectodermal tumor | Uneori (5–29%) |
| Head and neck tumor | Rar (1–4%) |
| Soft tissue sarcoma | Neînregistrat |
Constitutional symptom
| Trait | Cât de frecvent apare |
|---|---|
| Chest pain | Foarte des (80–99%) |
| Chronic fatigue | Foarte des (80–99%) |
| Fatigue | Foarte des (80–99%) |
| Pain | Des (30–79%) |
| Erythromelalgia | Uneori (5–29%) |
Abnormality of limbs
| Trait | Cât de frecvent apare |
|---|---|
| Abnormality of the wide portion of the femoral bone | Foarte des (80–99%) |
| Abnormality of the wide portion of a long bone | Des (30–79%) |
| Abnormality of the wide portion of shankbone | Des (30–79%) |
| Fluid accumulation in lower limbs | Rar (1–4%) |
Abnormality of the respiratory system
| Trait | Cât de frecvent apare |
|---|---|
| Lung adenocarcinoma | Des (30–79%) |
| Abnormality of the respiratory system | Uneori (5–29%) |
| Lung cancer | Rar (1–4%) |
| Neoplasm of the larynx | Rar (1–4%) |
Abnormality of the immune system
| Trait | Cât de frecvent apare |
|---|---|
| Acne | Des (30–79%) |
| Decreased immune function | Des (30–79%) |
| Recurrent cutaneous fungal infections | Uneori (5–29%) |
Abnormal cellular phenotype
| Trait | Cât de frecvent apare |
|---|---|
| Decreased circulating antibody level | Întotdeauna |
| Short telomere length | Întotdeauna |
Abnormality of prenatal development or birth
| Trait | Cât de frecvent apare |
|---|---|
| Choriocarcinoma | Rar (1–4%) |
Abnormality of the breast
| Trait | Cât de frecvent apare |
|---|---|
| Breast cancer | Des (30–79%) |
Abnormality of the ear
| Trait | Cât de frecvent apare |
|---|---|
| Dizziness | Des (30–79%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to TP53 and how often each is seen. Find out more at hpo.jax.org.
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